Copy For Citation
Saltik-Temizel İ. N., Coskun T., Yuce A., Kocak N.
TURKISH JOURNAL OF PEDIATRICS, vol.47, no.2, pp.167-169, 2005 (SCI-Expanded)
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Publication Type:
Article / Article
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Volume:
47
Issue:
2
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Publication Date:
2005
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Journal Name:
TURKISH JOURNAL OF PEDIATRICS
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Page Numbers:
pp.167-169
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Keywords:
Fanconi-Bickel syndrome, glycogenosis, mutation analysis, GLUCOSE-TRANSPORTER, GLUT2 GENE, SLC2A2 GLUT2
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Hacettepe University Affiliated:
Yes
Abstract
Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of: glucose transporter 2 (GLUT2) gene.